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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NEU1 Gene

protein-coding GIFtS: 62
GCID: GC06M031825

sialidase 1 (lysosomal sialidase)

(Previous symbol: NEU)

Explore 123 diseases affiliated with
NEU1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Sialidase 1 (Lysosomal Sialidase)¹ ²		N-Acetyl-Alpha-Neuraminidase 1² ³
NEU¹ ² ⁵		EC 3.2.1.18³ ⁸
Acetylneuraminyl Hydrolase² ³		SIAL1² ⁵
Lysosomal Sialidase² ³		Exo-Alpha-Sialidase¹
NANH² ³		Sialidase-1¹
G9 Sialidase² ³

External Ids:	HGNC: 7758¹	Entrez Gene: 4758²	Ensembl: ENSG00000204386⁷	OMIM: 608272⁵	UniProtKB: Q99519³

Export aliases for NEU1 gene to outside databases

Previous GC identifers: GC06M031898 GC06M031597 GC06M031931 GC06M031934

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NEU1:

The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such

as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with

beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene

can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or

normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with

increased severity. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519

Function: Catalyzes the removal of sialic acid (N-acetylneuramic acid) moities from glycoproteins and glycolipids. To

be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha

2-3 and alpha 2-6 sialyl linkage

Gene Wiki entry for NEU1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15 NT_113891.2 NT_167244.1 NT_167245.1 NT_167246.1 NT_167247.1

NT_167248.1 NT_167249.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NEU1 gene promoter:
GR Brachyury GR-beta MyoD STAT3 GR-alpha Tal-1beta c-Ets-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NEU1 promoter sequence

Search SABiosciences Chromatin IP Primers for NEU1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NEU1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.33 HGNC cytogenetic band: 6p21

NEU1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NEU1 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M031825: view genomic region (about GC identifiers)

Start:	31,825,436 bp from pter	End:	31,830,709 bp from pter
Size:	5,274 bases	Orientation:	minus strand

6/7 alternative locations (see all 7):

Chr6-,ALT_REF_LOCI_4 31,789,547-31,793,427	Chr6-,ALT_REF_LOCI_5 31,818,130-31,822,010	Chr6-,ALT_REF_LOCI_2 31,812,978-31,857,440
Chr6-,ALT_REF_LOCI_3 31,807,625-31,823,936	Chr6-,ALT_REF_LOCI_1 31,836,794-31,850,367	Chr6-,ALT_REF_LOCI_6 31,815,830-31,856,684

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519 (See protein sequence)

Recommended Name: Sialidase-1 precursor

Size: 415 amino acids; 45467 Da

Subunit: Interacts with cathepsin A (protective protein), beta-galactosidase and N-acetylgalactosamine-6-sulfate

sulfatase in a multienzyme complex

Subcellular location: Lysosome membrane; Peripheral membrane protein; Lumenal side. Lysosome lumen. Cell membrane.

Cytoplasmic vesicle. Note=Localized not only on the inner side of the lysosomal membrane and in the lysosomal lumen,

but also on the plasma membrane and in intracellular vesicles

Explore the universe of human proteins at neXtProt for NEU1: NX_Q99519

Post-translational modifications:

N-glycosylated¹

Phosphorylation of tyrosine within the internalization signal results in inhibition of sialidase internalization and

blockage on the plasma membrane¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q99519

4/7 DME Specific Peptides for NEU1 (Q99519) (see all 7)

DQGSTWS

DGLNLGAVV

APQLYVLYEKGRN

VASTMLVWSKDDG

NEU1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000425.1

ENSEMBL proteins:

ENSP00000433127 ENSP00000364782 ENSP00000432288

Reactome Protein details: Q99519
Human Recombinant Protein Products:

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	Novus Biologicals NEU1 Proteins Novus Biologicals NEU1 Lysate
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for NEU1
	Uscn Proteins for NEU1

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	lysosome	TAS	8985184
GO:0005765	lysosomal membrane	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0016023	cytoplasmic membrane-bounded vesicle	IEA	--
GO:0030054	cell junction	IDA	--

NEU1 for ontologies About GeneDecksing

NEU1 Antibody Products:

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	OriGene Antibodies (see all 6): NEU1 OriGene Custom Antibody Services for NEU1
	GenScript Custom Superior Antibodies Services for NEU1
	Novus Biologicals NEU1 Antibodies
	Search for Antibodies for NEU1 at Abcam
	Uscn Antibodies for NEU1
	Search ThermoFisher Antibodies for NEU1

Assay Products for NEU1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for NEU1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for NEU1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NEU1 for domains About GeneDecksing

3 InterPro domains/families:

IPR026942 Sialidase-1

IPR011040 Sialidases

IPR026856 Sialidase_fam

Graphical View of Domain Structure for InterPro Entry Q99519

ProtoNet protein and cluster: Q99519

UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519

Domain: A C-terminal internalization signal (YGTL) appears to allow the targeting of plasma membrane proteins to

endosomes

Similarity: Belongs to the glycosyl hydrolase 33 family

Similarity: Contains 4 BNR repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519

Function: Catalyzes the removal of sialic acid (N-acetylneuramic acid) moities from glycoproteins and glycolipids. To

be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha

2-3 and alpha 2-6 sialyl linkage

Catalytic activity: Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal sialic

acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates

Biophysicochemical properties: pH dependence: Optimum pH is 4.6;

Genatlas biochemistry entry for NEU1:

neuraminidase,lysosomal,involved in stepwise degradation of complex type of oligosaccharide structure (glycoprotein

catabolism),and cleavage of sialic acid from GM1 gangliosides

Enzyme Number (IUBMB): EC 3.2.1.18¹ ²

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NEU1
		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate NEU1 (see all 12):
		hsa-miR-205 hsa-miR-125a-5p hsa-miR-1283 hsa-miR-520d-5p hsa-miR-130a* hsa-miR-23c hsa-miR-23b hsa-miR-125b

		SwitchGear 3'UTR luciferase reporter plasmid: NEU1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NEU1 (see all 7) OriGene shRNA RFP: NEU1 OriGene siRNA: NEU1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NEU1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for NEU1

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		GenScript: all cDNA clones in your preferred vector: NEU1 (NM_000434)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for NEU1
		Search LifeMap BioReagents cell lines for NEU1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEU1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004308	exo-alpha-sialidase activity	TAS	8985184
GO:0005515	protein binding	--	--
GO:0052794	exo-alpha-(2->3)-sialidase activity	IEA	--
GO:0052795	exo-alpha-(2->6)-sialidase activity	IEA	--
GO:0052796	exo-alpha-(2->8)-sialidase activity	IEA	--

NEU1 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for NEU1:

Increased S DNA content

Synthetic lethal with Ras

Animal Models:
15/17 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Neu1) (see all 17):

behavior/neurological	cardiovascular system	cellular	growth/size	hematopoietic system
homeostasis/metabolism	immune system	integument	liver/biliary system	mortality/aging
muscle	nervous system	no phenotypic analysis	renal/urinary system	respiratory system

NEU1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Sphingolipid metabolism

	Sphingolipid metabolism	1.00			Sphingolipid metabolism	0.54
	Glycosphingolipid metabolism	0.54

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Lysosome

Lysosome

1.00

Other glycan degradation

Other glycan degradation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

4 Reactome Pathways for NEU1

	Sphingolipid metabolism
	Glycosphingolipid metabolism
	Metabolism
	Metabolism of lipids and lipoproteins

3 Kegg Pathways (Kegg details for NEU1):

	Other glycan degradation
	Sphingolipid metabolism
	Lysosome

NEU1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NEU1

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

5/12 Interacting proteins for NEU1 (Q99519^{2, 3} ENSP00000364782⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GLB1	P16278³, ENSP00000306920⁴	I2D: score=4 STRING: ENSP00000306920
CTSA	P10619³, ENSP00000361562⁴	I2D: score=4 STRING: ENSP00000361562
EEF1A1	P68104³	I2D: score=4
GALNS	P34059³	I2D: score=1
HDAC5	Q9UQL6³	I2D: score=1

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006644	phospholipid metabolic process	TAS	--
GO:0006665	sphingolipid metabolic process	TAS	--
GO:0006687	glycosphingolipid metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

NEU1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NEU1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NEU1

10/61 HMDB Compounds for NEU1 (see all 61) About this table

Compound	Synonyms	CAS #	PubMed Ids
Galactosylceramide (d18:1/16:0)	Galactocerebroside (see all 15)	--	--
Galactosylceramide (d18:1/18:0)	Galactocerebroside (see all 15)	--	--
Galactosylceramide (d18:1/18:1(9Z))	Galactocerebroside (see all 15)	--	--
Galactosylceramide (d18:1/20:0)	Galactocerebroside (see all 15)	--	--
Galactosylceramide (d18:1/22:0)	Galactocerebroside (see all 15)	--	--
Galactosylceramide (d18:1/24:1(15Z))	Galactocerebroside (see all 15)	--	--
Galactosylceramide (d18:1/26:1(17Z))	Galactocerebroside (see all 15)	--	--
Ganglioside GA2 (d18:1/12:0)	Asialo GM2 (see all 9)	88506-68-7	--
Ganglioside GA2 (d18:1/16:0)	Asialo GM2 (see all 9)	88506-68-7	--
Ganglioside GA2 (d18:1/18:0)	Asialo GM2 (see all 9)	88506-68-7	--

1 DrugBank Compound for NEU1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Oseltamivir	--	204255-11-8	target	inhibitor	20222714

10/98 Novoseek chemical compound relationships for NEU1 gene (see all 98) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
zanamivir	96.1	167	8553549 (3), 10544106 (3), 7549872 (2), 11197587 (2) (see all 99)
oseltamivir	95.6	210	18480754 (3), 11197587 (2), 19943705 (2), 19086415 (2) (see all 99)
sialic acid	93.6	329	2067026 (4), 10741468 (3), 7844831 (2), 8115995 (2) (see all 99)
oseltamivir carboxylate	89.8	14	9514938 (3), 15337401 (2), 17944268 (2), 10406636 (1) (see all 8)
rimantadine	88.6	24	11218299 (1), 18220963 (1), 18820569 (1), 11779387 (1) (see all 20)
peramivir	88.5	11	17109288 (1), 17235399 (1), 16430195 (1), 14516917 (1) (see all 11)
amantadine	84.7	36	11218299 (1), 18220963 (1), 11810539 (1), 11779387 (1) (see all 32)
4-amino-neu5ac2en	80.6	2	8787876 (1), 15044728 (1)
neu5ac2en	80.4	7	16575531 (1), 7851958 (1), 9655825 (1), 8257298 (1) (see all 6)
2'-(4-methylumbelliferyl)-alpha-d-n-acetylneuraminic acid	76.4	2	15885103 (1)

Search CenterWatch for drugs/clinical trials and news about NEU1 / NEUR1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NEU1 gene:

NM_000434.3

Unigene Cluster for NEU1:

Sialidase 1 (lysosomal sialidase)

Hs.520037 [show with all ESTs]

Unigene Representative Sequence: NM_000434

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000495807 ENST00000480384 ENST00000491768 ENST00000375631(uc003nxq.4)

ENST00000479533

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		hsa-miR-205 hsa-miR-125a-5p hsa-miR-1283 hsa-miR-520d-5p hsa-miR-130a* hsa-miR-23c hsa-miR-23b hsa-miR-125b

		SwitchGear 3'UTR luciferase reporter plasmid: NEU1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NEU1 (see all 7) OriGene shRNA RFP: NEU1 OriGene siRNA: NEU1
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NEU1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NEU1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: NEU1 (NM_000434)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEU1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NEU1

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NEU1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NEU1

Additional cDNA sequence:

AF040958.1 AK290966.1 AK313006.1 BC000722.2 BC011900.2 BT007206.1 CR456717.1 CR541916.1

U84246.1 X78687.1

15 DOTS entries:

DT.446959 DT.100880808 DT.100659171 DT.100880797 DT.75140380 DT.121318862 DT.100696900 DT.92441790

DT.92053464 DT.95264565 DT.121318944 DT.121318960 DT.91987405 DT.92337442 DT.75163808

24/467 AceView cDNA sequences (see all 467):

BQ675903 BU623867 AA291041 BF434060 BQ646059 BX499366 AU141225 BU859723

AI926417 CA425403 BG822167 BE407605 BQ070830 BQ953512 BX116924 BC000722

BX394299 CD516993 CR607381 BQ064552 AW780372 BM703615 BQ899009 AI628321

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NEU1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTGACTATC

About this image

NEU1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Mature follicles (In-vitro growth and ...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NEU1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NEU1

SOURCE GeneReport for Unigene cluster: Hs.520037

UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519

Tissue specificity: Highly expressed in pancreas, followed by skeletal muscle, kidney, placenta, heart, lung and liver.

Weakly expressed in brain

SABiosciences Expression via Pathway-Focused PCR Array including NEU1:

Glycosylation in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NEU1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEU1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for NEU1 gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Neu1^{1 , 5}	neuraminidase 1^{1, 5}	83.95(n)¹ 83.87(a)¹		17 (18.48 cM)⁵ 18010¹ NM_010893.3¹ NP_035023.3¹ 34931253⁵
lizard (Anolis carolinensis)	Reptilia	NEU1⁶	--	70(a)	1 ↔ 1	2(194100986-194115064)
African clawed frog (Xenopus laevis)	Amphibia	BX845467.1²	--	74.14(n)		BX845467.1
zebrafish (Danio rerio)	Actinopterygii	neu1¹	neuraminidase 1	59.64(n) 60.8(a)		559850 NM_001044909.2 NP_001038374.1

ENSEMBL Gene Tree for NEU1 (if available)
TreeFam Gene Tree for NEU1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104893971^1,2	C	pathogenic	31613428(-)	`CCCTGG/TAGGGC`	2	E *	stg¹		0	--	--	--	--
rs104893979^1,2	C	pathogenic	31613707(-)	`TGGACC/TCTGTG`	2	P S	mis¹		0	--	--	--	--
rs104893981^1,2	C	pathogenic	31613760(-)	`TGATGC/TCTGTG`	2	A V	mis¹		1		EU	1323
rs104893977^1,2	C	pathogenic	31614048(-)	`TGATTA/TCAATC`	2	Y F	mis¹		0	--	--	--	--
rs104893983^1,2	C	pathogenic	31614100(-)	`GCTACA/GGAAGT`	2	R G	mis¹		0	--	--	--	--
rs28940583^1,2	C,	pathogenic	31614178(-)	`TCATCG/ATGTGT`	2	/M /V	mis¹		2		WA NA	4670
rs104893986^1,2	C	pathogenic	31616298(-)	`TTCTGA/GGGAGG`	3	--	int¹		0	--	--	--	--
rs104893972^1,2	C	pathogenic	31829856(-)	`TCTTCG/TCGCCT`	2	R L	mis¹		0	--	--	--	--
rs104893984^1,2	C	pathogenic	31830467(-)	`GTTTGA/GGTGTT`	2	* W	stg¹		0	--	--	--	--
rs71552094^1,2	C,	--	31612486(+)	`CTGACG/-CTGTA`	1	--	ds500¹		1		NA	2

HapMap Linkage Disequilibrium report for NEU1 (31825436 - 31830709 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NEU1: --
Human Gene Mutation Database (HGMD): NEU1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NEU1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NEU1 for disorders           About GeneDecksing

OMIM gene information: 608272
OMIM disorders: 256550
UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519

Defects in NEU1 are the cause of sialidosis (SIALIDOSIS) [MIM:256550]. It is a lysosomal storage disease

occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or

normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood,

progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the

screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several

variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic

features including coarse facies and dysostosis multiplex, vertebral deformities, mental retardation, cherry-red

spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival

epithelial cells

20/123 diseases for NEU1 (see all 123): About MalaCards

sialidosis lysosomal storage disease gangliosidosis gm1 hydrops fetalis

myoclonus monoclonal gammopathy of undetermined significance sialidosis, type ii bernard-soulier syndrome

sialidosis type i diffuse large b-cell lymphoma swine influenza bacterial vaginosis

parainfluenza virus type 3 gas gangrene age related macular degeneration gangliosidosis

hemolytic-uremic syndrome b-cell lymphomas plasmodium falciparum malaria canavan disease

1 disease from the University of Copenhagen DISEASES database for NEU1:

Gangliosidosis

10/96 Novoseek disease relationships for NEU1 gene (see all 96) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
influenza	93.5	1210	19995812 (7), 17405969 (5), 18978531 (5), 10679035 (4) (see all 99)
sialidosis	90.7	42	14695530 (2), 15908988 (2), 9054950 (2), 11702224 (2) (see all 33)
sialidase deficiency	87.8	14	9480870 (2), 7850863 (2), 1588015 (1), 11195014 (1) (see all 12)
swine influenza	76	5	9311570 (1), 12734230 (1), 15340540 (1), 19673419 (1) (see all 5)
parainfluenza	73.2	20	8525632 (2), 15890905 (1), 17229690 (1), 17522226 (1) (see all 16)
virus infection	65	60	8492089 (4), 16220098 (2), 8525632 (2), 16682242 (2) (see all 45)
viral shedding	62.4	7	16220098 (3), 17494613 (1), 15494906 (1), 16595309 (1) (see all 5)
fowl plague	61.5	1	1281944 (1)
influenza pneumonia	55.9	3	17087332 (2), 17342649 (1)
gangliosidosis gm1	55.4	2	16111643 (1), 11400749 (1)

Genatlas disease: NEU1

mucolipidosis,type I,sialidosis,types I and II,hydrops fetalis

Human Genome Epidemiology (HuGE) Navigator: NEU1 (2 documents)

Export disorders for NEU1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for NEU1 gene, integrated from 9 sources (see all 856):
(articles sorted by number of sources associating them with NEU1)

Utopia: connect your pdf to the dynamic
world of online information

Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. (PubMed id 9054950)^{1, 2, 3, 9} Pshezhetsky A.V....Potier M. (1997)
Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. (PubMed id 8985184)^{1, 2, 9} Bonten E.J.... d'Azzo A. (1996)
Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. (PubMed id 14695530)^{1, 2, 9} Pattison S.... Igdoura S.A. (2004)
Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex. (PubMed id 11279074)^{1, 2, 9} Lukong K.E.... Pshezhetsky A.V. (2001)
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. (PubMed id 10767332)^{1, 2, 9} Lukong K.E.... Pshezhetsky A.V. (2000)
Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation. (PubMed id 9480870)^{1, 2, 9} Vinogradova M.V.... Pshezhetsky A.V. (1998)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. (PubMed id 14656967)^{1, 2} Xie T.... Hood L. (2003)
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. (PubMed id 11829139)^{1, 2} Itoh K.... Sakuraba H. (2002)
Intracellular distribution of lysosomal sialidase is controlled by the internalization signal in its cytoplasmic tail. (PubMed id 11571282)^{1, 2} Lukong K.E.... Pshezhetsky A.V. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4758	HGNC: 7758	AceView: NEU1	Ensembl:ENSG00000204386	euGenes: HUgn4758
ECgene: NEU1	Kegg: 4758	H-InvDB: NEU1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for NEU1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NEU1
Wikipedia	http://en.wikipedia.org/wiki/Neuraminidase

Intellectual Property for NEU1 gene
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Patent Information for NEU1 gene:
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GeneCards and IP:
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sialidase 1 (lysosomal sialidase)

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NEU1 Gene

sialidase 1 (lysosomal sialidase)

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